Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154947780G>T , CM000685.2:g.154947780G>T | GRCh38 |
| NC_000023.10:g.154176055G>T , CM000685.1:g.154176055G>T | GRCh37 |
| NC_000023.9:g.153829249G>T | NCBI36 |
| NG_011403.1:g.79944C>A | |
| NG_011403.2:g.79944C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.2031C>A MANE Select | NP_000123.1:p.Phe677Leu |
| ENST00000360256.9:c.2031C>A MANE Select | ENSP00000353393.4:p.Phe677Leu |
| NM_000132.3:c.2031C>A | NP_000123.1:p.Phe677Leu |
| ENST00000360256.8:c.2031C>A | ENSP00000353393.4:p.Phe677Leu |
| ENST00000647125.1:c.*1779+6112C>A | ENSP00000496062.1:n.*1779+6112C>A |
| XM_011531126.1:c.1926C>A | XP_011529428.1:p.Phe642Leu |